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Schinzel-Giedion sendromu (midface retraction)

Kalıtsal - AD

Gelişme geriliği

Boyun kısa

Kafa tabanı sklerotik-kısa

Fontaneller ve suturalar çok geniş

Burun köküne dek uzanan metopik sutura

Kafatabanı küçük ve sklerotik

Alın bombesi yüksek/geniş

Hipertelorizm

Göz çukurları sığ

Ptozis

Burun kısa

Yüz hipoplazisi (orta bölüm)

Yüz derisinde hemangioma

Makroglossi

Kalpte atrial septum defekti

Ürogenital malformasyonlar

Hipertrikoz

Ürogenital anomaliler

Yaygın iskelet anomalileri

Beyin anomalileri

Nörolojik bulgular: epilepsi, spastik görünüm, opistotonus

Zeka geriliği

Yüksek tümör riski: embriyonal tümörler, hepatoblastoma, sakral teratom, nöroepitelyal tümörler

 

  • Okamoto N, Takeuchi M, Kitajima H, Hosokawa S. A patient with Schinzel-Giedion syndrome and a review of 20 patients. Japanese Journal of Human Genetics, 40: 189-193, 1995

  • Rittinger O, Weiss-Wichert P, Hasenohrl G. Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome (Letter). Clinical Dysmorphology, 8: 291-293, 1999

  • Minn D, Christmann D, De Saint-Martin A, et al. Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. American Journal of Medical Genetics, 109: 211-217, 2002

  • Lehman AM, McFadden D, Pugash D, et al. Schinzel-Giedion syndrome: report of splenic pancreatic fusion and proposed diagnostic criteria. American Journal of Medical Genetics A, 146A: 1299-1306, 2008

  • Hoischen A, van Bon BWM, Gilissen C, et al. De novo mutations of SETBP cause Schinzel-Giedion syndrome. Nature Genetics, 42: 483-485, 2010Suphapeetiporn, K., Srichomthong, C., Shotelersuk, V. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. (Letter) Clin. Genet. 79: 391-393, 2011

  • Suphapeetiporn K, Srichomthong C, Shotelersuk V. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome (Letter). Clinical Genetics, 79: 391-393, 2011